RESUMO
BACKGROUND: Atypical myelitis in multiple sclerosis (MS) is characterized by extensive myelitis in the longitudinal (longitudinally extensive transverse myelitis) or axial plane (transverse myelitis). OBJECTIVE: To characterize a cohort of MS patients with atypical myelitis. METHODS: Atypical myelitis was extracted from the French and Luxembourg MS databases and compared to two cohorts of MS patients with typical myelitis and neuromyelitis optica spectrum disorders (NMOSDs) patients with myelitis. RESULTS: We enrolled 28 MS patients with atypical myelitis, 68 MS patients with typical myelitis and 119 NMOSD patients with a first episode of myelitis. MS patients with atypical myelitis were characterized by a mean age of 34.0 (±10.7) years and 64.3% were women. In 82.1% of the patients, atypical myelitis was the first episode of MS. Mean Expanded Disability Status Scale (EDSS) scores at nadir and 3-6 months after onset were 4.1 ± 2.1 and 3.3 ± 2, respectively. Differences between groups revealed a predominance of cervicothoracic myelitis and a higher level of disability in NMOSD patients. Disability in MS patients with atypical myelitis was more severe than in the MS patients with typical myelitis; 28% had already converted to progressive MS within our mean follow-up of 39.6 (±30.4) months. CONCLUSION: Atypical myelitis may be the first presentation of MS and is associated with poorer prognosis.
Assuntos
Esclerose Múltipla , Mielite Transversa , Neuromielite Óptica , Adulto , Aquaporina 4 , Estudos de Coortes , Feminino , Humanos , Imageamento por Ressonância Magnética , Esclerose Múltipla/complicações , Mielite Transversa/etiologia , Neuromielite Óptica/complicações , Adulto JovemAssuntos
Blefaroptose/genética , Nanismo/genética , Hipertricose/genética , Deficiência Intelectual/genética , Mutação/genética , Fosfolipases/genética , Retinose Pigmentar/genética , Adolescente , Blefaroptose/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Nanismo/diagnóstico por imagem , Feminino , Humanos , Hipertricose/diagnóstico por imagem , Deficiência Intelectual/diagnóstico por imagem , Imageamento por Ressonância Magnética , Retinose Pigmentar/diagnóstico por imagem , Tomógrafos ComputadorizadosRESUMO
BACKGROUND AND PURPOSE: Studies of the effects of nicotine on motor symptoms in Parkinson's disease (PD) brought out discordant results. The aim of the present study was to evaluate the efficacy and safety of high doses of transdermal nicotine on motor symptoms in PD. METHODS: Forty PD patients were randomly assigned to a treated and untreated arm in an open-label study. Treated patients received increasing doses of nicotine to reach 90 mg/day by 11 weeks. This dosage was maintained for 28 weeks (W39) and then reduced over 6 weeks. Final evaluation was performed 6 weeks after washout. The main outcome measure was the OFF-DOPA Unified Parkinson's Disease Rating Scale (UPDRS) motor score measured on video recordings by raters blinded to the medication status of the patients. RESULTS: There was no significant difference in OFF-DOPA UPDRS motor scores between the nicotine-treated and non-treated groups, neither at W39 (19.4 ± 9.3 vs. 21.5 ± 14.2) nor considering W39 differences from baseline (-1.5 ± 12.1 vs. +0.9 ± 12.1). The 39-item Parkinson's disease questionnaire scores decreased in nicotine-treated patients and increased in non-treated patients, but the difference was not significant. Overall tolerability was acceptable, and 12/20 treated patients reached the maximal dosage. CONCLUSIONS: High doses of transdermal nicotine were tolerated, but our study failed to demonstrate significant improvement in UPDRS motor scores. Improvement in unblinded secondary outcomes (UPDRS-II, UPDRS-IV, doses of l-DOPA equivalents) suggest a possible benefit for patients treated with nicotine, which should be confirmed in larger double blind, placebo-controlled studies.
Assuntos
Nicotina/administração & dosagem , Nicotina/uso terapêutico , Agonistas Nicotínicos/administração & dosagem , Agonistas Nicotínicos/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Idoso , Antiparkinsonianos/uso terapêutico , Quimioterapia Combinada , Determinação de Ponto Final , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico por imagem , Inquéritos e Questionários , Adesivo Transdérmico , Resultado do TratamentoRESUMO
TTR FAP is characterized by phenotypic and genotypic heterogeneity. The severity of polyneuropathy along with autonomic dysfunction and heart involvement makes it a life-threatening disease. This protein is mainly produced by the liver. Molecular genetic testing is essential in the diagnostic strategy. TTR-Val30Met is the most frequent substitution, resulting in a guanine to cytosine mutation in exon 2 of the gene. It is virtually the only variant detected in Portugal, Brazil, and Sweden. By contrast, as many as 30 different TTR variants are reported in Japan and in other European countries. A less severe phenotype with late onset has been reported. Diagnosis should be performed as early as possible since upcoming pharmacological therapeutic approaches are now available, in addition to liver transplantation.
